Canonical Allele Identifier: PA2828716040
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4577
ClinVar RCV Id: RCV000004839 RCV000190985 RCV000587645 RCV000762969 RCV000665304 RCV001002876 RCV001582466 RCV004532290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Asp104Ala
CA116932
NM_001377456.1:c.311A>C